Dr. Huda Zoghbi, professor of molecular and human genetics, neuroscience, pediatrics and neurology at Baylor College of Medicine, and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, is slated to receive the highest scientific award given by the University of Pittsburgh School of Medicine--the 2013 Dickson Prize in Medicine ­- at its annual celebration of science and research, Science2013 -­ Convergence.

Zoghbi, also a Howard Hughes Medical Institute investigator, will receive the award on Oct. 3, and deliver the Dickson Prize in Medicine Lecture at the event¹s opening plenary session.

Zoghbi is best known for her research on neurological diseases, beginning with finding, in collaboration with Dr. Harry Orr of the University of Minnesota, the gene for a disorder called spinocerebellar ataxia 1 in 1993. In 1999, she found the gene for Rett Syndrome, another neurological disorder that affects primarily young girls. She also identified the gene for Math1, a gene that plays a role in the formation of many different cells types, including the crucial hair cells of the inner ear, secretory cells in the intestine, and cells critical for breathing in newborns.

Recent research

Much of her more recent work has focused on understanding how these mutated genes lead to the various neurological symptoms. She is relying on genotype-phenotype correlations to uncover important domains of the involved proteins and is identifying the cells that are most vulnerable to the defective proteins. With her collaborators, she has looked at gene pathways that can modify toxicity in spinocerebellar ataxia. Her work showed that reducing the level of defective protein through pathway intermediaries may have a treatment effect on the negative symptoms of the disease. The forward screen used to identify these modulators of the defective ataxin protein may also be helpful in screening for similar modulators of the proteins involved Alzheimer’s and Parkinson’s diseases.

Zoghbi moved from the clinic to the laboratory after completing her residencies in pediatrics and pediatric neurology at BCM. She completed a postdoctoral fellowship with Dr. Arthur L. Beaudet, now chair of BCM’s Department of Molecular and Human Genetics.

Helping one child at a time

A recognized mentor of young scientists, she frequently tells them, "As a physician, I could help one child at a time. In the laboratory, I hope to help thousands."

Her work reflects that translational approach. When she began to research spinocerebellar ataxia 1, she identified families with the disorder, driving dusty country roads to interview them and their caretakers in rural Texas and Louisiana. They touched her heart as did the first patients she saw with Rett Syndrome. Those young girls seem healthy until six to 18 months of age, when they begin to lose cognitive and physical skills.

That passion along with an intellectual curiosity about how such disease develops has driven her scientific career. She has helped develop many diagnostic tests that simplify identification of children and adults with neurological disorders and is closing the gap on developing potential treatments for people with these problems.

Zogbhi was born and grew up in Beirut, Lebanon. She received her bachelor of science degree and entered medical school at the American University of Beirut. However, the civil war in Lebanon forced her to go to the United States, where she entered medical school at Meharry Medical College in Nashville, Tennessee, earning her MD in 1979. She completed her two residencies at Baylor College of Medicine and a post-doctoral fellowship before joining the faculty as an assistant professor in 1988.

Collaborative spirit

The first gene discovery in 1993 boosted her scientific career. She served on crucial federal committees and collaborated with researchers around the world. She is still known for her collaborative spirit.

The establishment of the Neurological Research Institute at Texas Children’s Hospital has enabled her to assemble a stellar cadre of neurological researchers who have the tools to address issues of the brain and neurological disease from a variety of points of view.

She is recognized around the world for her acumen as a scientist, a translational researcher, a mentor and an innovator in her field. She is the recipient of many awards, including the E. Mead Johnson Award in Pediatric Research, the Bristol-Myers Squibb Award for Distinguished Achievement in Neuroscience Research, the Vilcek Prize in Biomedical Science, and the Gruber Neuroscience Prize. She is a member of the Institute of Medicine, the National Academy of Sciences, the Texas Women’s Hall of Fame, and a fellow of the American Association for the Advancement of Science.